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NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) AND Disorders of Intracellular Cobalamin Metabolism

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002517437.2

Allele description [Variation Report for NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)]

NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)

Gene:
LMBRD1:LMBR1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
HGVS:
  • NC_000006.12:g.69701470del
  • NG_016012.2:g.170147del
  • NM_001363722.2:c.837del
  • NM_001367271.1:c.837del
  • NM_001367272.1:c.837del
  • NM_018368.4:c.1056delMANE SELECT
  • NP_001350651.1:p.Asn280fs
  • NP_001354200.1:p.Asn280fs
  • NP_001354201.1:p.Asn280fs
  • NP_060838.3:p.Asn353fs
  • LRG_1310t1:c.1056del
  • LRG_1310:g.170147del
  • LRG_1310p1:p.Asn353fs
  • NC_000006.11:g.70411362del
  • NG_016012.1:g.100688del
  • NM_018368.3:c.1056delG
Protein change:
N280fs
Links:
OMIM: 612625.0001; dbSNP: rs749272546
NCBI 1000 Genomes Browser:
rs749272546
Molecular consequence:
  • NM_001363722.2:c.837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367271.1:c.837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367272.1:c.837del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018368.4:c.1056del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Disorders of Intracellular Cobalamin Metabolism
Identifiers:
MedGen: CN043592

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003354492GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P.

Nat Genet. 2009 Feb;41(2):234-9. doi: 10.1038/ng.294. Epub 2009 Jan 11.

PubMed [citation]
PMID:
19136951

Details of each submission

From GeneReviews, SCV003354492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024